The coverage report is generated with cacao version 1.0.0, using the following key settings:

  • Genome assembly: grch37
  • Mode: Hereditary cancer AND actionable somatic loci AND somatic hotspots
  • Alignment quality threshold (MAPQ): 0
  • Callability levels (somatic):
    • NO_COVERAGE: No coverage (zero sequencing depth)
    • LOW_COVERAGE: Sequencing depth from 1 to 29
    • CALLABLE: Sequencing depth from 30 to 199
    • HIGH_COVERAGE: Sequencing depth above 200
  • Callability levels (germline):
    • NO_COVERAGE: No coverage (zero sequencing depth)
    • LOW_COVERAGE: Sequencing depth from 1 to 9
    • CALLABLE: Sequencing depth from 10 to 99
    • HIGH_COVERAGE: Sequencing depth above 100

Hereditary cancer - known pathogenic loci

Global distribution


Coverage per locus

High coverage


Callable


Low coverage


No coverage


Actionable loci - somatic mutations

Global distribution


Coverage per locus


Cancer hotspots

Global distribution


Coverage per locus